{"orpha":716742,"name":"Congenital myasthenic syndrome with kinetic defect","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS with kinetic defect","Kinetic abnormalities of the AChR"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716742/","orphanet_url":"https://www.orpha.net/en/disease/detail/716742","names":{"fr":{"name":"Syndrome myasthénique congénital avec annomalie cinétique","synonyms":["Anomalie cinétique du RACh","SMC avec anomalie cinétique"]},"de":{"name":"Kongenitales myasthenes Syndrom mit kinetischem Defekt","synonyms":["CMS mit kinetischem Defekt","Myasthenie-Syndrom durch kinetische Anomalien des Acetylcholinrezeptors"]},"es":{"name":"Síndrome miasténico congénito con defecto cinético","synonyms":["Anomalías cinéticas de AChR","SMC con defecto cinético"]},"it":{"name":"Sindrome miastenica congenita con difetto cinetico","synonyms":["CMS con difetto cinetico","SCM con difetto cinetico","Anomalie cinetiche di AChR"]},"nl":{"name":"Congenitaal myastheen syndroom met kinetisch defect","synonyms":["CMS met kinetisch defect","Kinetische afwijking van AChR"]},"pt":{"name":"Congenital myasthenic syndromes with kinetic defect"},"pl":{"name":"Wrodzone zespoły miasteniczne z defektem kinetycznym","synonyms":["CMS with kinetic defect","Kinetic abnormalities of the AChR"]},"cs":{"name":"Congenital myasthenic syndrome with kinetic defect","synonyms":["CMS with kinetic defect","Kinetic abnormalities of the AChR"]}},"xrefs":[{"source":"OMIM","code":"601462","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605809","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608930","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616313","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616321","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616322","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616324","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98913,"name":"Postsynaptic congenital myasthenic syndrome","classifications":[147,156,181,189]}],"children":[{"orpha":716772,"name":"Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance","type":"Etiological subtype"},{"orpha":716758,"name":"Fast-channel congenital myasthenic syndrome","type":"Etiological subtype"},{"orpha":716765,"name":"Slow-channel congenital myasthenic syndrome","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}